title: Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplication.
abstract: Oculoauriculovertebral spectrum (OAVS; OMIM 164210) is characterized by anomalies derived from an abnormal development of the first and second branchial arches, with marked inter and intra-familial phenotypic variability. Main clinical features are defects on aural, oral, mandibular, and vertebral development. Cardiac, pulmonary, renal, skeletal, and central nervous system anomalies have also been described. Most affected individuals are isolated cases in otherwise normal families. Autosomal dominant inheritance has been observed in about 2-10% of cases and linkage analysis as well as array-CGH analysis have detected candidate loci for OAVS offering new insights into the understanding of pathogenesis of this entity. We describe a family with clinical diagnosis of OAVS, autosomal dominant inheritance pattern, and detection of a 14q23.1 duplication of 1.34 Mb in size which segregates with the phenotype. This region contains OTX2, which is involved in the development of the forebrain, eyes, and ears, and appears to be a good candidate gene for OAVS.
authors.affiliation: Unidad de Genética Médica y Dismorfología, Servicio de Pediatría, Hospital Universitario Virgen de la Arrixaca, Murcia, Spain. mjuliana.ballesta@carm.es
authors.forename: Maria Juliana
authors.initials: MJ
authors.lastname: Ballesta-Martínez
authors.forename: Vanesa
authors.initials: V
authors.lastname: López-González
authors.forename: Lluis Armengol
authors.initials: LA
authors.lastname: Dulcet
authors.forename: Benjamín
authors.initials: B
authors.lastname: Rodríguez-Santiago
authors.forename: Sixto
authors.initials: S
authors.lastname: Garcia-Miñaúr
authors.forename: Encarna
authors.initials: E
authors.lastname: Guillen-Navarro
mesh_terms: D000328:Adult; D058674:Chromosome Duplication; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D005260:Female; D005799:Genes, Dominant; D006053:Goldenhar Syndrome / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D051857:Otx Transcription Factors / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype
chemical_list: C497659:OTX2 protein, human; D051857:Otx Transcription Factors
keywords: 14q23.1 duplication; Goldenhar syndrome; OTX2; hemifacial microsomia; oculoauriculovertebral spectrum